ERBB2, erb-b2 receptor tyrosine kinase 2, 2064
N. diseases: 995; N. variants: 85
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2008 | 2016 | ||||||||
|
0.827 | 0.160 | 17 | 39724008 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2006 | 2016 | ||||||||
|
0.807 | 0.120 | 17 | 39724747 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2011 | 2016 | ||||||||
|
0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 39725363 | missense variant | C/G;T | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2006 | 2013 | |||||||
|
17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 17 | 39711952 | missense variant | G/A;C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 17 | 39724772 | missense variant | T/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.200 | 17 | 39723966 | missense variant | T/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
17 | 39723966 | inframe deletion | TGAGGGAAAACACAT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 17 | 39710347 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |